Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis.

Behavioral Variability and Somatic Mosaicism: A Cytogenomic Hypothesis. Curr Genomics. 2018 Apr;19(3):158-162 Authors: Vorsanova SG, Zelenova MA, Yurov YB, Iourov IY Abstract Behavioral sciences are inseparably related to genetics. A variety of neurobehavioral phenotypes are suggested to result from genomic variations. However, the contribution of genetic factors to common behavioral disorders (i.e. autism, schizophrenia, intellectual disability) remains to be understood when an attempt to link behavioral variability to a specific genomic change is made. Probably, the least appreciated genetic mechanism of debilitating neurobehavioral disorders is somatic mosaicism or the occurrence of genetically diverse (neuronal) cells in an individual's brain. Somatic mosaicism is assumed to affect directly the brain being associated with specific behavioral patterns. As shown in studies of chromosome abnormalities (syndromes), genetic mosaicism is able to change dynamically the phenotype due to inconsistency of abnormal cell proportions. Here, we hypothesize that brain-specific postzygotic changes of mosaicism levels are able to modulate variability of behavioral phenotypes. More precisely, behavioral phenotype variability in individuals exhibiting somatic mosaicism might correlate with changes in the amount of genetically abnormal cells throughout the lifespan. If proven, the hypothesis can be used as a basis for therapeutic interventions through regulating levels o...
Source: Current Genomics - Category: Genetics & Stem Cells Tags: Curr Genomics Source Type: research

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Using neurons grown from stem cells, EU-funded researchers are revealing more about mutations that lead to autism, schizophrenia and intellectual disability which researchers hope will lead to new drug targets for personalised medicine.
Source: EUROPA - Research Information Centre - Category: Research Source Type: news
Everyone complains about work. Having to go to work every day, working too much, not getting paid enough- working can be challenging for so many reasons. Today’s episode focuses on working while having schizophrenia.  Host Rachel Star Withers, a diagnosed schizophrenic, and co-host Gabe Howard share antidotes from their own work lives and speak with fellow schizophrenic Michelle Hammer. Michelle, an award-winning graphic designer and entrepreneur, discusses her struggles working full time and transitioning to working for herself. Cheryl Wallace the Vice President of Programs at Rose Hill Center, a psychiatric tr...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: A Bipolar, A Schizophrenic, and a Podcast Inside Schizophrenia Mental Health and Wellness Self-Help Employment life with schizophrenia Living With Schizophrenia mental illness at work Psychology working working and schizophrenia Source Type: blogs
CONCLUSIONS: The problematics of differential diagnosis remain critical for clinical approaches to autism. Therefore, formalizations of the diagnostic procedures must be able to remain open-minded and accompanied by a creative clinical approach, especially in the case of complex situations that are not soluble by means of conventional diagnostic tools. One possibility may lie in the deepening of the phenomenological approach to autism as an attempt to model the subjective phenomena of autistic subjects and thus operationalize elements that serve the diagnostic process. In the same way, a psychodynamic epistemology could he...
Source: L Encephale - Category: Psychiatry Tags: Encephale Source Type: research
Publication date: Available online 5 August 2019Source: The Lancet PsychiatryAuthor(s): Janneke R Zinkstok, Erik Boot, Anne S Bassett, Noboru Hiroi, Nancy J Butcher, Claudia Vingerhoets, Jacob A S Vorstman, Therese A M J van AmelsvoortSummary22q11.2 deletion syndrome is characterised by a well defined microdeletion that is associated with a high risk of neuropsychiatric disorders, including intellectual disability, schizophrenia, attention-deficit hyperactivity disorder, autism spectrum disorder, anxiety disorders, seizures and epilepsy, and early-onset Parkinson's disease. Preclinical and clinical data reveal substantial ...
Source: The Lancet Psychiatry - Category: Psychiatry Source Type: research
Conclusion: Compared with adults without CP, those with CP have an elevated prevalence of mental health disorders, some of which may be more pronounced in patients with comorbid neurodevelopmental disorders. Primary Funding Source: National Institute on Disability, Independent Living, and Rehabilitation Research. PMID: 31382276 [PubMed - as supplied by publisher]
Source: Annals of Internal Medicine - Category: Internal Medicine Authors: Tags: Ann Intern Med Source Type: research
In this episode, our hosts discuss whether or not mental illness is a real disorder or if it’s just something that medical and pharmaceutical companies made up to make a profit.  SUBSCRIBE &REVIEW “Instead of taking my psychiatric medications this morning, should I have just gone to yoga?” – Michelle Hammer Highlights from ‘Mental Illness Made Up’ Episode [2:00] Is mental illness real? [4:00] Yoga doesn’t cure all mental illnesses, just like it wouldn’t cure cancer. [16:00] Dealing with people who think mental illness is not real. [19:30] Eating disorders ar...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: A Bipolar, A Schizophrenic, and a Podcast Brain and Behavior Disorders General Source Type: blogs
Conclusion3q29 deletion carriers may undergo developmental phenotypic transition and need regular medical follow ‐up. Identified risk variants in the remaining hemizygous allele should be explored further in autism and schizophrenia research.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Publication date: Available online 19 July 2019Source: Molecular Aspects of MedicineAuthor(s): Ebrahim Hosseini, Zahra Bagheri-Hosseinabadi, Ilario De Toma, Moslem Jafarisani, Iman SadeghiAbstractIn the last decade, transcriptome analyses have discovered thousands of long non-coding RNAs (lncRNAs) which are assumed as a fundamental part of the gene regulatory networks in the cell. Intriguingly, lncRNAs are abundantly enriched in the brain, displaying elaborate spatiotemporal expression profiles and modulation. They diversely participate in the delicate regulation of the central nervous system (CNS) development including se...
Source: Molecular Aspects of Medicine - Category: Molecular Biology Source Type: research
AbstractBackgroundThe 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described.MethodsWe ascertained individuals with 3q29 deletion syndrome (3q29Del, “cases,”n = 93, 58.1% male) and typically developing controls (n = 64, 51.6% male) through the 3q29 registry (https://3q29deletion.patientcrossroads.org). Self-report of neuropsychiatric...
Source: Molecular Autism - Category: Molecular Biology Source Type: research
Reliably, about once a month, I come across someone who believes that a person who’s been diagnosed with X, Y, or Z mental disorder has, in effect, a life-crippling disability. Somehow they got a hold of the diagnostic manual of mental disorders or read some symptoms or an article or two online, and suddenly they feel like they know everything about a condition. If a person has a disorder like depression, they believe that they know everything they need to know about that person. When I was seeing patients back in graduate school, I sometimes looked at some of them that way too. But in the intervening 20+ years, I&rs...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: General Policy and Advocacy Psychiatry Psychology destigmatization identity Label Mental Health Stereotypes Source Type: blogs
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